2.When was Kallmann syndrome first discovered ?

Kallmann syndrome is named after the German born, American geneticist and psychiatrist Franz J. Kallmann, who, in 1944, was the first to offer a genetic explanation for a medical condition he observed in some of his patients who happened to be both sexually immature and anosmic.

Although some of his original observations and conclusions were to be questioned in later years as more was learned about the disease, his work was nevertheless an important and valuable milestone.

However, Kallmann was not the first to recognise a possible link between sexual immaturity and an absent sense of smell. Eighty years earlier, the Spanish doctor Aureliano Maestre de San Juan had carried out a post mortem examination on a 40-year old man who had a small penis and very small testes. An interesting discovery was made. On examination of the dead man's brain, it was established that two small structures normally located deep within the brain, called the olfactory bulbs, were completely missing, a fact which explained his absent sense of smell (See question 10).

A few years later, an Austrian medical journal published the findings of a Professor Heschl who made a similar discovery in a 45-year old man who also had small genitalia and little body and pubic hair.

In 1914, the German doctor Franz Weidenreich suggested that there was a definite association between anosmia and a lack of sexual development and that consequently this represented a discrete syndrome. A syndrome is defined as a combination of signs and/or symptoms which causes a particular disease. In this case, the syndrome later became known as Kallmann syndrome.

A lot has been learned about the disease since Kallmann's work in 1944. Thanks to advanced research techniques, it has been possible to identify the fundamental cause of the disease, to optimise forms of treatment and to explain the genetics behind Kallmann syndrome and other forms of CHH.

Much about Kallmann syndrome is still not very well understood, but the pace at which medical research is currently revealing its secrets is considerable and hopefully, it will only be a matter of time before more are revealed.